The single signal reflects a 46,XY complement. The population is a high-risk group due to advanced maternal age who were referred for NIPT. Turner's syndrome. Wang, K.
This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases. Age related sex chromosome aneuploidy addition in Maryland 2. The most likely origin of 47,XYY is paternal nondisjunction at meiosis II, resulting in 24,YY spermatozoa, followed by syngamy with a normal 23,X ovum.
The findings here support the well-documented impact of an additional X-chromosome on male fertility and age related sex chromosome aneuploidy addition in Maryland, and suggest that an extra Y chromosome has an impact, but less than an additional X [ 31 ]. No samples ended up with case level no-result calls due to low fetal fraction; however, two provided no results for Monosomy X because the paternal partial Y prevented fetal Y chromosome interpretation Table 2.
Our results provide further evidence that the sex chromosomes undergo mosaic events more frequently than autosomes, which could have implications for understanding the underlying mechanisms of mosaic events and their possible contribution to risk for chronic diseases. This current and extensive information on fertility will be beneficial for genetic counseling on prenatal diagnoses as well as for newly diagnosed postnatal cases.
Nielsen J, Wohlert M. Fifty years of X-inactivation research.